Canonical Allele Identifier: CA1104126241

Gene: ABCB1

Linked Data

• dbSNP Id: rs1816025437
• gnomAD v3: 7-87530890-AAAG-A
• gnomAD v4: 7-87530890-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530894_87530896del , CM000669.2:g.87530894_87530896del	GRCh38
NC_000007.13:g.87160210_87160212del , CM000669.1:g.87160210_87160212del	GRCh37
NC_000007.12:g.86998146_86998148del	NCBI36
NG_011513.1:g.187356_187358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+401_2685+403del	ENSP00000265724.3:n.2685+401_2685+403del
ENST00000622132.5:c.2685+401_2685+403del MANE Select	ENSP00000478255.1:n.2685+401_2685+403del
ENST00000265724.7:c.2685+401_2685+403del	ENSP00000265724.3:n.2685+401_2685+403del
ENST00000488737.6:n.327+401_327+403del
ENST00000496821.5:n.313+401_313+403del
ENST00000543898.5:c.2493+401_2493+403del	ENSP00000444095.1:n.2493+401_2493+403del
ENST00000622132.4:c.2685+401_2685+403del	ENSP00000478255.1:n.2685+401_2685+403del
NM_000927.4:c.2685+401_2685+403del	NP_000918.2:n.2685+401_2685+403del
NM_001348944.1:c.2685+401_2685+403del	NP_001335873.1:n.2685+401_2685+403del
NM_001348945.1:c.2895+401_2895+403del	NP_001335874.1:n.2895+401_2895+403del
NM_001348946.1:c.2685+401_2685+403del	NP_001335875.1:n.2685+401_2685+403del
NM_001348946.2:c.2685+401_2685+403del MANE Select	NP_001335875.1:n.2685+401_2685+403del
NM_000927.5:c.2685+401_2685+403del	NP_000918.2:n.2685+401_2685+403del
NM_001348944.2:c.2685+401_2685+403del	NP_001335873.1:n.2685+401_2685+403del
NM_001348945.2:c.2895+401_2895+403del	NP_001335874.1:n.2895+401_2895+403del